GABA transaminase deficiency. Case report and literature review

Abstract

GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post-mortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosis of a rare neurometabolic disorder in one of the babies in the family and eventual genetic counselling of the family. The family has been offered pre-implantation genetic diagnosis for future pregnancies. This case reporting has been approved by the hospital research and ethical committee.